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PVT1 Pvt1 oncogene [ Homo sapiens (human) ]

Gene ID: 5820, updated on 28-Nov-2021

Summary

Official Symbol
PVT1provided by HGNC
Official Full Name
Pvt1 oncogeneprovided by HGNC
Primary source
HGNC:HGNC:9709
See related
Ensembl:ENSG00000249859 MIM:165140
Gene type
ncRNA
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LINC00079; MIR1204HG; NCRNA00079; onco-lncRNA-100
Summary
This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]
Expression
Broad expression in ovary (RPKM 3.9), bone marrow (RPKM 3.4) and 21 other tissues See more
Orthologs
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Genomic context

See PVT1 in Genome Data Viewer
Location:
8q24.21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (127794533..128101253)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (128806779..129113499)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene origin of replication upstream of MYC Neighboring gene cancer susceptibility 11 Neighboring gene MYC proto-oncogene, bHLH transcription factor Neighboring gene Sharpr-MPRA regulatory region 14038 Neighboring gene PVT1 intron CAGE-defined low expression enhancer Neighboring gene microRNA 1204 Neighboring gene Sharpr-MPRA regulatory region 1737 Neighboring gene long intergenic non-protein coding RNA 2912 Neighboring gene microRNA 1205 Neighboring gene RNA, variant U1 small nuclear 32 Neighboring gene RNA, U4 small nuclear 25, pseudogene Neighboring gene microRNA 1206 Neighboring gene microRNA 1207 Neighboring gene Sharpr-MPRA regulatory region 6197 Neighboring gene microRNA 1208

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A common variant at 8q24.21 is associated with renal cell cancer.
GeneReviews: Not available
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
GeneReviews: Not available
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
GeneReviews: Not available
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Genome-wide association study of atypical psychosis.
GeneReviews: Not available
Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.
GeneReviews: Not available
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available
Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study.
GeneReviews: Not available
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Other Names

  • CXCR4/PVT1 fusion
  • HIST1H2BD/PVT1 fusion
  • MIR1204, MIR1205, MIR1206 and MIR1207 host
  • Oncogene PVT-1 (MYC activator)
  • PVT1/CASC8 fusion
  • PVT1/CCDC26 fusion
  • PVT1/IFRD1 fusion
  • PVT1/IRF2BP2 fusion
  • PVT1/LINC00824 fusion
  • PVT1/MYC fusion
  • PVT1/NFIL3 fusion
  • PVT1/NSMCE2 fusion
  • PVT1/SPRY2 fusion
  • PVT1/UBB fusion
  • Pvt1 oncogene (non-protein coding)
  • RP11-89K10/PVT1 fusion
  • long intergenic non-protein coding RNA 79
  • plasmacytoma variant translocation 1
  • pvt-1 (murine) oncogene homolog, MYC activator

Clone Names

  • MGC21751

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_003367.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC026248, BC041065, BM821521, BX280136
    Related
    ENST00000513868.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    127794533..128101253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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